Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.

Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German family displaying AD-FSP with anticipation which confirms the existence of the FSP2 locus on chromosome 2p. The recombination events observed in our family define the critical region for the FSP2 gene to be within a 4-cM interval, flanked by markers D2S400 and D2S367. Moreover, clinical data from our family show evidence of anticipation, a phenomenon caused by trinucleotide expansion in several other neurodegenerative diseases.

[Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany]. / Erste Ergebnisse bei der genomischen Carrierdiagnostik in Risikosippen mit Hämophilie A und B in der DDR.

In 7 families at risk for hemophilia A 42 individuals were evaluated by the Taq I polymorphism of the extragenic probe St 14.1 and the Bcl I as well the Hind III polymorphism of the intragenic probe F8e16-19. 15 out of 20 females of the core families were identified as carriers, under them all of the obligate heterozygotes. 5 individuals were excluded as carriers. The heterozygosity for each of the RFLPs was found to be between 30% and 79%. Combining the single data in 96% heterozygosity was found under the individuals tested. A linkage disequilibrium was found between the Bcl I and Hind III polymorphismus of the probe F8e16-19. A family at risk for hemophilia B including 5 individuals was studied using the Taq I and Xmn I polymorphisms of the probe P1. In one of two females the carrier state could be excluded in the other one confirmed.

[Genetic differences in the eye-manifestation of adjuvant arthritis in the rat. III. Crossbreeding experiments (author's transl)]. / Genetische Unterschiede in der Augenmanifestation der Adjuvansarthritis der Ratte. III. Kreuzungsversuche.

The results of crossbreeding experiments between several strains of rats are reported. They show differences in the prevalence of iritis in the course of adjuvant disease as did the results we published in an earlier article. There are alterations which indicate a recessive heredity of the tendency to iritis. The contribution of genetic factors in the course of adjuvant arthritis has been confirmed by the present results.

[Genetic differences in the eye manifestation of adjuvant arthritis in the rat. II. Histological investigations (author's transl)]. / Genetische Unterschiede in der Augenmanifestation der Adjunansarthritis der Ratte. II. Histologische Untersuchungen.

Hooded rats react to intracutaneous injections of complete Freund's adjuvant with an adjuvant disease, which is externally perceivable by massive polyarthritis, by skin and ear nodules, and by other known symptoms. In contrast to Wistar rats, however, they show no tendency to develop clinically or histologically provable eye manifestations such as an uveitis anterior (adjuvant uveitis). This fact has been connected with the genetic differences between the two strains of rats.

[Treatment of chronic infantile hepatitis with D-penicillamine (author's transl)]. / Die Behandlung der chronischen kindlichen Hepatitis mit D-Penicillamin.

Detailed discussion of action, indication and side effects of D-Penicillamine which was used for the treatment of chronic hepatitis of infancy. Of 18 patients, 7 had chronic-active hepatitis, 6 chronic persisting hepatitis, 2 subacute hepatitis and 3 fibrosis of the liver. Control of results was based on numerous clinical chemical investigations and repeated liver biopsies. The transaminases and histology of the biopsies were the essential parameters. Doses between 15 and 35 mg/kg of body weight gave very favorable results in these 18 patients, treated over 5 to 24 months. Australia antigen-negative, chronic active hepatitis appeared to be particularly suited for this type of treatment.

[Age dependence of adjuvant arthritis in rats (author's transl)]. / Zur Altersabhängigkeit der Adjuvansarthritis der Ratte.

The age dependence of elicitation of adjuvant arthritis in three different strains of rats is recorded. In contrast to the existing literature an adjuvant disease can be elicited already in animals of 13 to 15 days of age, where significant, obvious genetical differences exist between the used strains with regard to age dependence of the occurence of arthritis. From the results is to conclude, that in all investigations on adjuvant arthritis merely genetically identic animals are to be used, and the possibility of strain dependent differences in the assessment of the results are to be considered.

[Allergen testing in juvenile rheumatoid arthritis]. / Allergentestung bei juveniler Rheumatoid-Arthritis.

79 children with classical collagenoses, streptococcaldiseases, arthralgia of unclear genesis and infection arthritis as well as juvenile rheumatoid arthritis and 25 normal children were submitted to an intracutaneous allergentest with various collecting extracts (legumens and cereals, house allergens, vegetables). Positive reactions to cereals in a high percentage were observed only in patients with juvenile rheumatoid arthritis and fewer also in children with unclear arthralgia and infection arthritis.